MCID: LMT001
MIFTS: 50

Limited Scleroderma

Categories: Bone diseases, Immune diseases, Nephrological diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Limited Scleroderma

MalaCards integrated aliases for Limited Scleroderma:

Name: Limited Scleroderma 11 14 16
Limited Cutaneous Systemic Sclerosis 11 19 58
Systemic Sclerosis Sine Scleroderma 19 58 71
Limited Systemic Sclerosis 19 58 33
Limited Cutaneous Systemic Scleroderma 19 58
Scleroderma, Limited 43 71
Crest Syndrome 19 71
Crest - [calcinosis, Raynaud Phenomenon, Oesophageal Dysmotility, Sclerodactyly, and Telangiectasia] Syndrome 33
Crst - [calcinosis, Raynaud Phenomenon, Sclerodactyly and Telangiectasia] Syndrome 33
Progressive Systemic Sclerosis Sine Scleroderma 19
Systemic Sclerosis, Limited 11
Scleroderma, Sine 19

Characteristics:


Inheritance:

Limited Cutaneous Systemic Sclerosis: Multigenic/multifactorial 58

Age Of Onset:

Limited Cutaneous Systemic Sclerosis: Adult 58
Limited Systemic Sclerosis: Adult 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:1577
MeSH 43 D045745
SNOMED-CT 68 128459005
ICD10 via Orphanet 32 M34.0 M34.1
UMLS via Orphanet 72 C0748540 C1290138
ICD11 33 187455179
UMLS 71 C0206138 C0748540 C1290138

Summaries for Limited Scleroderma

GARD: 19 Limited cutaneous systemic sclerosis is a subtype of systemic sclerosis characterized by the association of Raynaud's phenomenon and skin fibrosis on the hands, face, feet and forearms. The exact cause of Limited cutaneous systemic sclerosis is unknown, but likely originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, the condition is associated with exposure to certain chemicals.

MalaCards based summary: Limited Scleroderma, also known as limited cutaneous systemic sclerosis, is related to diffuse cutaneous systemic sclerosis and telangiectasis. An important gene associated with Limited Scleroderma is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are Ebola virus infection in host and Genes associated with the development of rheumatoid arthritis. The drugs Ropivacaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and endothelial, and related phenotypes are autoimmunity and hypopigmented skin patches

Orphanet 58 Limited cutaneous systemic sclerosis: Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

Limited systemic sclerosis: Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.

Related Diseases for Limited Scleroderma

Diseases related to Limited Scleroderma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 diffuse cutaneous systemic sclerosis 31.3 IRF5 HLA-DRB1 CCR6 CCN2 CAV1
2 telangiectasis 31.1 TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPS
3 scleroderma, familial progressive 31.1 TOP1 FBL EDN1 CENPB CCN2
4 raynaud disease 31.0 TRIM21 SNRNP70 EDN1 CENPB
5 systemic scleroderma 30.9 TSSK1B TRIM21 TOP1 SNRNP70 IRF5 HLA-DRB1
6 lupus erythematosus 30.7 TRIM21 SNRNP70 IRF5 CCR6 BANK1
7 pulmonary fibrosis 30.7 EDNRA EDN1 CCN2 CAV1
8 childhood type dermatomyositis 30.7 TRIM21 SNRNP70 HLA-DRB1 EXOSC10 CCR6
9 crest syndrome 30.6 TOP1 SNRNP70 FBL EXOSC10 CENPS CENPC
10 primary biliary cholangitis 30.6 TRIM21 IRF5 HLA-DRB1 CENPB CCR6
11 dilated cardiomyopathy 30.5 HLA-DRB1 EDNRA EDN1 CCR6 CCN2 CAV1
12 sjogren syndrome 30.5 TRIM21 CENPB CCR6
13 autoimmune disease 30.4 TRIM21 IRF5 HLA-DRB1 FBL CENPB CCR6
14 interstitial lung disease 2 30.4 EDN1 CCR6 CCN2 CAV1
15 pulmonary venoocclusive disease 30.4 EDNRA EDN1 CAV1
16 intraocular pressure quantitative trait locus 30.4 EDNRA EDN1 CCN2
17 mononeuritis multiplex 30.3 TRIM21 HLA-DRB1
18 temporal arteritis 30.3 TRIM21 HLA-DRB1 CCR6
19 nonspecific interstitial pneumonia 30.3 TRIM21 TOP1 EXOSC10 CCR6
20 collagen disease 30.3 TRIM21 SNRNP70 EXOSC10 CCR6
21 gastric antral vascular ectasia 30.3 TOP1 EXOSC10
22 localized scleroderma 30.2 TSSK1B TOP1 SNRNP70 EXOSC10 CCN2
23 connective tissue disease 30.2 TRIM21 TOP1 SNRNP70 HLA-DRB1 FBL EDNRA
24 portal hypertension 30.1 EDNRA EDN1 CCR6
25 diffuse scleroderma 30.1 TSSK1B TRIM21 TOP1 SNRNP70 FBL EXOSC10
26 systemic lupus erythematosus 30.0 TRIM21 SNRNP70 KIAA0319L IRF5 HLA-DRB1 EDN1
27 dyskinesia of esophagus 29.9 TRIM21 TOP1 SNRNP70 FBL EXOSC10 CENPS
28 primary localized cutaneous nodular amyloidosis 11.0
29 libman-sacks endocarditis 10.4 TRIM21 SNRNP70
30 adult dermatomyositis 10.4 TRIM21 HLA-DRB1
31 esophageal leukoplakia 10.4 TOP1 CENPB CENPA
32 mikulicz disease 10.4 TRIM21 CCR6
33 transverse myelitis 10.4 TRIM21 HLA-DRB1 CCR6
34 cutaneous lupus erythematosus 10.4 TRIM21 IRF5 CCR6
35 inflammatory bowel disease 14 10.4 IRF5 CCN2
36 perinephritis 10.4 EDNRA EDN1
37 mononeuritis of upper limb and mononeuritis multiplex 10.4 TRIM21 HLA-DRB1
38 splenic tuberculosis 10.4 SNRNP70 FBL EXOSC10
39 autoimmune disease of cardiovascular system 10.4 TRIM21 HLA-DRB1 CCR6
40 hypersensitivity reaction type iv disease 10.4 TRIM21 HLA-DRB1 CCR6
41 facial hemiatrophy 10.4 SNRNP70 EXOSC10 BANK1
42 antisynthetase syndrome 10.4 TRIM21 SNRNP70 EXOSC10
43 conjunctival vascular disease 10.4 TRIM21 TOP1 EDN1
44 femoral cancer 10.4 EDNRA EDN1
45 malignant renovascular hypertension 10.4 EDNRA EDN1
46 autoimmune disease of exocrine system 10.4 TRIM21 SNRNP70 IRF5 CCR6
47 hepatopulmonary syndrome 10.4 EDNRA EDN1 CAV1
48 mandibulofacial dysostosis with alopecia 10.4 EDNRA EDN1
49 malignant secondary hypertension 10.4 TRIM21 EDNRA EDN1
50 glaucoma, primary open angle 10.4 EDN1 CCN2 CAV1

Graphical network of the top 20 diseases related to Limited Scleroderma:



Diseases related to Limited Scleroderma

Symptoms & Phenotypes for Limited Scleroderma

Human phenotypes related to Limited Scleroderma:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmunity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002960
2 hypopigmented skin patches 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001053
3 narrow foramen obturatorium 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100958
4 nausea and vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002017
5 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002015
6 gastroesophageal reflux 58 30 Frequent (33%) Frequent (79-30%)
HP:0002020
7 skin ulcer 58 30 Frequent (33%) Frequent (79-30%)
HP:0200042
8 mucosal telangiectasiae 58 30 Frequent (33%) Frequent (79-30%)
HP:0100579
9 telangiectasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0100585
10 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
11 pulmonary fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002206
12 joint contracture of the hand 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009473
13 foot joint contracture 30 Occasional (7.5%) HP:0008366
14 abnormality of skin pigmentation 58 Very frequent (99-80%)
15 abnormality of the skin 58 Very frequent (99-80%)
16 contractures involving the joints of the feet 58 Occasional (29-5%)

Drugs & Therapeutics for Limited Scleroderma

Drugs for Limited Scleroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
2 Anesthetics, Local Phase 4
3 Anesthetics Phase 4
4
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
5
Sildenafil Approved, Investigational Phase 3 139755-83-2, 171599-83-0 5212 135398744
6
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
7
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
8 Phosphodiesterase Inhibitors Phase 3
9 Phosphodiesterase 5 Inhibitors Phase 3
10 Vasodilator Agents Phase 3
11 Calcium, Dietary Phase 3
12 Anticoagulants Phase 3
13 Citrate Phase 3
14 Chelating Agents Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
17
Ifetroban Investigational Phase 2 143443-90-7 3037233
18 Anti-Bacterial Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Antitubercular Agents Phase 2
21 Antibiotics, Antitubercular Phase 2
22 Platelet Aggregation Inhibitors Phase 2
23
Nitric Oxide Approved 10102-43-9 145068
24
Racepinephrine Approved, Vet_approved 51-43-4, 329-65-7 838 5816
25 Analgesics
26 Epinephryl borate
27 Pharmaceutical Solutions
28 Analgesics, Opioid

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Intérêt du TFP (Transversalis Fascia Plane) Bloc échoguidé Pour l'analgésie du prélèvement Osseux de crête Iliaque Completed NCT02398474 Phase 4 TFP block ropivacaine;ropivacaine infiltration of the iliac crest bone
2 Effect of Sildenafil on the Microcirculatory Blood Flow and on the Endothelial Progenitor Cells in Patients With Systemic Sclerosis: a Randomized, Double-blind, Placebo-controlled Clinical Trial Completed NCT01347008 Phase 3 Sildenafil citrate;Placebo (Sugar pill)
3 Chemical Sympathectomy Following Peripheral Nerve Block With Liposomal Bupivacaine Terminated NCT02374320 Phase 2, Phase 3 liposomal bupivacaine
4 A Randomised Prospective Open Label Pilot Trial Comparing Mycophenolate Mofetil (MMF) With no Immunosuppression in Adults With Limited Cutaneous Systemic Sclerosis Recruiting NCT04927390 Phase 2 Mycophenolate Mofetil 500mg
5 A Phase 2 Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety and Efficacy of Ifetroban in Patients With Diffuse Cutaneous Systemic Sclerosis (SSc) or SSc-associated Pulmonary Arterial Hypertension (SSc-PAH) Recruiting NCT02682511 Phase 2 Oral Ifetroban;Oral Placebo
6 Localized Effects of Photobiomodulation and Exogenous Nitric Oxide on CREST Patients Calcinosis Cutis & Raynaud Phenomenon Unknown status NCT03972566 INOMAX
7 Comparative Clinical Study of the Prevention of the Reduction of Alveolar Crest by Alveoli Filling With an Injectable Calcium Phosphate After Extraction of Mandibular Molar or Pre Molar Unknown status NCT00740311
8 A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma Completed NCT01881529
9 A Prospective Pilot Study on the Performance of The Plexur P™ Bone Void Filler Completed NCT00837473
10 The Analgesic Efficacy of the Transversalis Fascia Plane Block in Iliac Crest Bone Graft Harvesting Completed NCT01133730 Active treatment;Placebo Arm
11 Metabolomic Analysis of Systemic Sclerosis Recruiting NCT02298777
12 A Multicenter, Prospective, Longitudinal Study to Evaluate Gastrointestinal Function and Clinical and Molecular Biomarkers in Subjects With Early and Late Diffuse Cutaneous Systemic Sclerosis, Limited Cutaneous Systemic Sclerosis, and Healthy Volunteers Withdrawn NCT02531009
13 Investigating Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease Withdrawn NCT04656704 Early Phase 1 hyaluronidase injected intradermally

Search NIH Clinical Center for Limited Scleroderma

Cochrane evidence based reviews: scleroderma, limited

Genetic Tests for Limited Scleroderma

Anatomical Context for Limited Scleroderma

Organs/tissues related to Limited Scleroderma:

MalaCards : Skin, Bone, Endothelial, Lung, Bone Marrow, Liver, Breast

Publications for Limited Scleroderma

Articles related to Limited Scleroderma:

(show top 50) (show all 1089)
# Title Authors PMID Year
1
Transesophageal endoscopic ultrasound-guided coil and cyanoacrylate treatment of challenging esophageal varices bleeding associated with CREST syndrome ulcerative esophagitis. 62
35523221 2022
2
Anti-topoisomerase-positive limited systemic sclerosis has a propensity for interstitial lung disease but is linked to favourable prognosis. 62
35552377 2022
3
A case of limited cutaneous systemic sclerosis with non-Fahr-type calcification in the brain and a review of the literature. 62
35959840 2022
4
Phenotype of limited cutaneous systemic sclerosis patients with positive anti-topoisomerase I antibodies: data from the EUSTAR cohort. 62
35348643 2022
5
Bilateral retinal vasculitis in association with systemic sclerosis sine scleroderma. 62
35718547 2022
6
Serum microRNAs in Systemic Sclerosis, Associations with Digital Vasculopathy and Lung Involvement. 62
36142646 2022
7
Domains and outcome measures for the assessment of limited cutaneous systemic sclerosis: an international collaborative scoping review. 62
35094049 2022
8
[18F]Sodium Fluoride PET has the potential to identify active formation of calcinosis cutis in limited cutaneous systemic sclerosis. 62
35687922 2022
9
Rheumatologic Associations of Microscopic Colitis: A Narrative Review. 62
35993773 2022
10
Localized scleroderma: actual insights and new biomarkers. 62
34347884 2022
11
A Case of Chronic Myelomonocytic Leukemia Unmasked After Receiving J&J COVID-19 Vaccine. 62
35865440 2022
12
Anti-RNA polymerase III antibodies in systemic sclerosis: Multicentric study from Argentina. 62
34366290 2022
13
The Relationship between Smoking, Raynaud's Phenomenon, Digital Ulcers, and Skin Thickness in the Waikato Systemic Sclerosis Cohort. 62
36465326 2022
14
Systemic Sclerosis Sine Scleroderma After Silicone Breast Implants. 62
33337809 2022
15
Spectrum of comorbid autoimmune diseases in patients with chondrodermatitis nodularis helicis: a 17-year retrospective study of 215 patients in Asturias, northern Spain 62
36065543 2022
16
Systemic sclerosis sine scleroderma in children. 62
34605913 2022
17
Antinuclear antibody pattern and autoantibody profiling of systemic sclerosis patients in a tertiary referral center in North India. 62
35319814 2022
18
Autoantibodies versus Skin Fibrosis Extent in Systemic Sclerosis: A Case-Control Study of Inverted Phenotypes. 62
35626223 2022
19
Artifactual hypoglycemia in a patient with systemic sclerosis. 62
33074796 2022
20
Friction Syndromes of the Knee. 62
35189665 2022
21
The Efficacy of a Home-Based, Self-Administered Hand Exercise Program for Patients With Systemic Sclerosis: A Randomized Controlled, Evaluator-Blind, Clinical Trial. 62
34030163 2022
22
Immunotactoid glomerulopathy - an enigmatic case in the setting of nodal marginal zone lymphoma and systemic sclerosis sine scleroderma. 62
35291980 2022
23
Chronic Dyspnea with Raynaud's Phenomenon and Elevated ANA: A Diagnosis of Systemic Sclerosis Sine Scleroderma. 62
35276077 2022
24
Vaso reactivity test using inhaled nitric oxide for pulmonary arterial hypertension accompanied by severe interstitial lung disease attributed to systemic sclerosis: A case report. 62
35261697 2022
25
Symptom experience of limited cutaneous systemic sclerosis from the Patients' perspective: A qualitative study✰,✰✰,★,★★. 62
34785028 2022
26
Immunosuppression use in early systemic sclerosis may be increasing over time. 62
35386940 2022
27
Clinical features and prognostic factors of systemic sclerosis in Guangxi, China: Retrospective, single-center study of long-term survival in 470 patients. 62
34889515 2022
28
Calcinosis in Limited Systemic Sclerosis. 62
35090614 2022
29
CREST Syndrome in Systemic Sclerosis Patients - Is Dystrophic Calcinosis a Key Element to a Positive Diagnosis? 62
35706527 2022
30
Cardiac calcium score in systemic sclerosis. 62
34495426 2022
31
Anti-tRNA synthetase syndrome interstitial lung disease: A single center experience. 62
33994288 2022
32
[Characteristics of patients with connective tissue disease-associated pulmonary arterial hypertension treated with prostanoids: A multicenter retrospective study]. 62
34462153 2021
33
Clinical and serological characteristics of systemic sclerosis: Experience of a tertiary care center in Pakistan. 62
35382372 2021
34
Galectin-1 and Galectin-3 Expression in Lesional Skin of Patients With Systemic Sclerosis-Association With Disease Severity. 62
32501939 2021
35
MicroRNA-411-3p inhibits bleomycin-induced skin fibrosis by regulating transforming growth factor-β/Smad ubiquitin regulatory factor-2 signalling. 62
34783198 2021
36
Occlusive retinal vasculitis associated with systemic sclerosis and antiphospholipid antibodies. 62
34568641 2021
37
Scleroderma Renal Crisis Complicating Male-to-Female Transgender Hormonal Therapy in a Patient With Long-Standing and Stable Limited Cutaneous Systemic Sclerosis. 62
32956156 2021
38
Calcinosis cutis in limited cutaneous systemic sclerosis. 62
33711165 2021
39
CREST syndrome. 62
32883767 2021
40
COVID-19 and exacerbation of dermatological diseases: A review of the available literature. 62
34453380 2021
41
Limited cutaneous systemic sclerosis: Total rehabilitation with fixed prosthesis on dental implants. 62
35387213 2021
42
Osteopetrosis in a Patient of Systemic Sclerosis Sine Scleroderma: A Rare Association. 62
35136520 2021
43
Acquired haemophilia A in a patient with limited cutaneous systemic sclerosis. 62
33878170 2021
44
Therapeutic Approaches to Systemic Sclerosis: Recent Approvals and Future Candidate Therapies. 62
34468946 2021
45
Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes. 62
34096881 2021
46
Oral Health Experiences of the Limited Scleroderma Patient. 62
34376545 2021
47
Biventricular affection in CREST syndrome. 62
33963836 2021
48
The burden of systemic sclerosis in Switzerland - the Swiss systemic sclerosis EUSTAR cohort. 62
34283895 2021
49
Primary Localized Cutaneous Nodular Amyloidosis and Limited Cutaneous Systemic Sclerosis: Additional Cases with Dermatoscopic and Histopathological Correlation of Amyloid Deposition. 62
34287266 2021
50
Evaluation of endothelial dysfunction and clinical events in patients with early-stage vasculopathy in limited systemic sclerosis. 62
34323684 2021

Variations for Limited Scleroderma

Expression for Limited Scleroderma

Search GEO for disease gene expression data for Limited Scleroderma.

Pathways for Limited Scleroderma

Pathways related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.24 TOP1 HLA-DRB1 CAV1
2 10.05 IRF5 HLA-DRB1 CCR6

GO Terms for Limited Scleroderma

Cellular components related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, centromeric region GO:0000775 9.63 CENPS CENPC CENPB CENPA
2 pericentric heterochromatin GO:0005721 9.43 CENPC CENPB CENPA
3 condensed chromosome, centromeric region GO:0000779 9.1 CENPC CENPB CENPA

Biological processes related to Limited Scleroderma according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 artery smooth muscle contraction GO:0014824 9.88 EDNRA EDN1
2 renal sodium ion absorption GO:0070294 9.87 EDNRA EDN1
3 pharyngeal arch artery morphogenesis GO:0061626 9.85 EDNRA EDN1
4 endothelin receptor signaling pathway GO:0086100 9.84 EDNRA EDN1
5 positive regulation of cation channel activity GO:2001259 9.83 EDNRA EDN1
6 axonogenesis involved in innervation GO:0060385 9.81 EDNRA EDN1
7 regulation of glucose transmembrane transport GO:0010827 9.8 EDNRA EDN1
8 cardiac neural crest cell migration involved in outflow tract morphogenesis GO:0003253 9.78 EDN1 EDNRA
9 noradrenergic neuron differentiation GO:0003357 9.76 EDN1 EDNRA
10 cellular response to luteinizing hormone stimulus GO:0071373 9.73 EDNRA EDN1
11 sympathetic neuron axon guidance GO:0097492 9.71 EDNRA EDN1
12 neural crest cell fate commitment GO:0014034 9.67 EDNRA EDN1
13 endothelin receptor signaling pathway involved in heart process GO:0086101 9.62 EDNRA EDN1
14 regulation of biological quality GO:0065008 9.56 EDNRA EDN1
15 meiotic cell cycle process involved in oocyte maturation GO:1903537 9.56 EDNRA EDN1
16 cellular response to human chorionic gonadotropin stimulus GO:0044751 9.46 EDNRA EDN1
17 vasoconstriction GO:0042310 9.43 EDNRA EDN1 CAV1
18 kinetochore assembly GO:0051382 9.1 CENPS CENPC CENPA

Molecular functions related to Limited Scleroderma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centromeric DNA binding GO:0019237 8.92 CENPC CENPB

Sources for Limited Scleroderma

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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